Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB1
Variant:p.M167K
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CHRNB1

NM_000747.3:p.M167K

Associated Papers

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.

Freed AS et al.

American Journal of Medical Genetics. Part A, 2021

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